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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	October 9, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4876 - 4900** of **15957** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼	Source
DOID:0080592	Klippel-Feil syndrome 4	Myo18b	74376	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:11664	nephrosclerosis Aliases: renal sclerosis	Adrb1 Ptgds	11554 19215	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P Aliases: LGMD2P MDDGC9 muscular dystrophy-dystroglycanopathy (limb-girdle) type C9 muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related	Dag1	13138	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112242	congenital symmetric circumferential skin creases 1 Aliases: CSCSC1	Tubb5	22154	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0112124	X-linked retinitis pigmentosa and sinorespiratory infections Aliases: primary ciliary dyskinesia-retinitis pigmentosa syndrome	Rpgr	19893	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:4762	vasculogenic impotence	Angpt2 Apod Tgfbr2	11601 11815 21813	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070344	ocular tuberculosis	Il10	16153	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3369	Ewing sarcoma Aliases: Ewing's family localized tumor Ewing's sarcoma/peripheral primitive neuroectodermal tumor Ewing's tumor Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor PNET of Thoracopulmonary Region localized Ewing sarcoma localized Ewing's sarcoma localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor localized Ewing's tumor localized peripheral primitive neuroectodermal tumor peripheral primitive neuroectodermal tumor	Ewsr1 Kdm3a	104263 14030	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0110438	dilated cardiomyopathy 1JJ Aliases: CMD1JJ	Lama4	16775	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080285	developmental and epileptic encephalopathy 58 Aliases: DEE58 early infantile epileptic encephalopathy 58	Ntrk2	18212	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0050847	sleep apnea	Adipoq Il6ra Lepr	11450 16194 16847	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080758	Fanconi renotubular syndrome 2	Slc34a1	20505	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111991	immunodeficiency 62 Aliases: IMD62	Arhgef1	16801	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:2236	congenital afibrinogenemia Aliases: Factor I deficiency Fibrinogen deficiency	Fga Fgb Fgg	110135 14161 99571	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia Aliases: PLSD-T PLSDT lethal short-limbed platyspondylic dwarfism, Torrance type platyspondylic dysplasia, Torrance-Luton type platyspondylic lethal skeletal dysplasia, Torrance type thanatophoric dysplasia, Torrance variant	Col2a1	12824	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:14501	Sjogren-Larsson syndrome Aliases: FALDH deficiency SLS Sjogren Larsson syndrome Sjogren-Larsson's syndrome fatty acid alcohol oxidoreductase deficiency	Acsl3	74205	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0080096	myofibrillar myopathy 5 Aliases: filaminopathy	Flnb Flnc	286940 68794	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:9953	acute biphenotypic leukemia Aliases: mixed phenotype acute leukemia	Dot1l	208266	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0070519	early-onset vitamin B6-dependent epilepsy 4 Aliases: AASA dehydrogenase deficiency EPEO4 PDE-ALDH7A1 antiquitin deficiency	Aldh7a1	110695	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060234	Carpenter syndrome Aliases: acrocephalopolysyndactyly type II	Megf8 Rab23	19335 269878	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060290	Ohdo syndrome, SBBYS variant Aliases: Say-Barber-Biesecker-Young-Simpson syndrome blepharophimosis-intellectual disability syndrome, SBBYS type	Kat6b	54169	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:3687	MELAS syndrome Aliases: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES	ND5	17721	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0060258	reticulate acropigmentation of Kitamura Aliases: RAPK	Adam10	11487	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:1474	aggressive periodontitis Aliases: juvenile periodontitis	Brinp3 Ccl2 Col1a1 Ctsc Il10 Il1r2 Il2 Postn Ppia	12842 13032 16153 16178 16183 20296 215378 268373 50706	Mus musculus (house mouse)	Alliance of Genome Resources
DOID:0111533	gnathodiaphyseal dysplasia Aliases: GDD Levin syndrome 2 gnathodiaphyseal sclerosis osteogenesis imperfecta with unusual skeletal lesions osteogenesis imperfecta, Levin type	Ano5	233246	Mus musculus (house mouse)	Alliance of Genome Resources

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